Oculocutaneous albinism (OCA) is a rare genetic disease. With a team of researchers and scientists well versed in OCA, our company is dedicated to developing advanced IVD products for OCA. We also provide point-of-care testing and companion diagnostic development services to facilitate rapid diagnosis and personalized therapies of OCA.
Overview of Oculocutaneous Albinism
Oculocutaneous albinism (OCA) stands as a genetic condition characterized by a lack of melanin production affecting the eyes, skin, and hair. The overall prevalence of OCA worldwide is approximately 1 in 20,000 people, underscores the significance of understanding its pathogenesis and developing effective diagnostic tools. Seven distinct types of OCA have been identified, each stemming from mutations disrupting melanin synthesis, leading to varying phenotypic presentations.
| Subtypes |
Mutant Gene |
Manifestations |
Prevalence |
| OCA1 |
TYR |
These variations result in complete or partial absence of melanin synthesis, impacting hair color, skin pigmentation, and visual acuity. |
1/40,000 |
| OCA2 |
OCA2 |
Individuals with OCA2 exhibit better pigment presence compared to OCA1, with manifestations like fair skin, varying hair colors, and commonly blue eyes. |
Most prevalent form of albinism. |
| OCA3, OCA4, OCA5, OCA6, OCA7 |
Different genes associated with melanin synthesis |
- OCA3: Red hair.
- OCA4: Specific skin coloration patterns.
- OCA5: Unique phenotypic characteristics.
- OCA6: Distinct manifestations.
- OCA7: Visual impairments.
|
Rare |
Fig. 1 Pathogenesis and molecular pathways of various OCA subtypes. (Ullah M I, 2022)
In Vitro Diagnostic Development for Oculocutaneous Albinism
In vitro diagnostic (IVD) methods can help confirm the presence of oculocutaneous albinism (OCA) and determine the specific type of albinism present. Currently, there are no IVD kits for OCA available on the market. Developing IVD products for OCA is expected to have certain market prospects. The development of IVD products is mainly based on the following aspects.
Genetic Testing
Genetic testing is a key method for diagnosing OCA. Next-generation sequencing (NGS) can be used to identify specific genetic markers associated with different types of OCA, such as genes such as TYR, OCA2, TYRP1, and SLC45A2.
Enzyme Activity Assays
Enzyme activity assays can be used to assess the activity of enzymes involved in melanin production, such as tyrosinase. Insufficient enzyme activity can suggest a diagnosis of OCA and help differentiate between different types of albinism.
Melanin Content Analysis
Melanin content analysis involves measuring the amount of melanin in skin, hair, or eyes. Individuals with OCA often have reduced or absent melanin, which can be quantitatively assessed using laboratory tests such as spectrophotometry.
Our Services
Recognizing the market potential of oculocutaneous albinism (OCA) diagnosis, our company is dedicated to investing in advanced technologies and professional talent to develop specialized IVD products for OCA. By delving into the pathological mechanisms and metabolic pathways of OCA, our scientists can tailor high specificity and sensitivity gene detection kits and metabolite detection kits for OCA. Supported by diagnostic equipment, these kits can enable accurate and reliable testing, facilitating timely diagnosis and intervention for OCA.
IVD Product Development Services
Optional IVD Products
- Gene Testing Kits (TYR, OCA2, TYRP1, etc.)
- Tyrosinase Detection Kits
- Melanin Content Detection Kits
- Primers and Probes
- DNA Extraction and PCR Reagents
- Nucleic Acid Extractor
- PCR Instrument
- DNA Sequencer
- Bioinformatics Software
- And More
We also provide point-of-care diagnostics and companion diagnostics development services for oculocutaneous albinism (OCA). These services enable rapid detection of biomarkers associated with OCA, facilitating early diagnosis and personalized therapies tailored to affected individuals.
If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
Reference
- Ullah M I. Clinical and mutation spectrum of autosomal recessive non-syndromic oculocutaneous albinism (nsOCA) in Pakistan: a review[J]. Genes, 2022, 13(6): 1072.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
